DRD1
dopamine receptor D1, the group of Dopamine receptors
Basic information
Region (hg38): 5:175440036-175444182
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRD1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 2 | |||||
| Total | 0 | 0 | 10 | 3 | 3 |
Variants in DRD1
This is a list of pathogenic ClinVar variants found in the DRD1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-175441764-T-C | not specified | Uncertain significance (Dec 16, 2022) | ||
| 5-175441783-T-C | Likely benign (May 21, 2018) | |||
| 5-175441913-C-A | not specified | Uncertain significance (Apr 10, 2023) | ||
| 5-175441922-T-C | not specified | Uncertain significance (Nov 20, 2024) | ||
| 5-175442040-T-C | not specified | Uncertain significance (Oct 07, 2024) | ||
| 5-175442056-G-A | Benign (Apr 04, 2018) | |||
| 5-175442060-C-T | not specified | Uncertain significance (Nov 18, 2022) | ||
| 5-175442171-G-A | not specified | Uncertain significance (Jun 10, 2024) | ||
| 5-175442192-G-A | not specified | Uncertain significance (Dec 06, 2024) | ||
| 5-175442342-C-G | not specified | Uncertain significance (Oct 30, 2023) | ||
| 5-175442556-T-C | not specified | Uncertain significance (Apr 08, 2022) | ||
| 5-175442578-T-G | Likely benign (Jun 08, 2018) | |||
| 5-175442631-T-C | not specified | Uncertain significance (May 30, 2022) | ||
| 5-175442667-T-C | not specified | Uncertain significance (Oct 28, 2023) | ||
| 5-175442668-G-A | Benign (Jun 08, 2018) | |||
| 5-175442877-C-T | not specified | Uncertain significance (Jan 27, 2022) | ||
| 5-175442945-C-G | not specified | Uncertain significance (Aug 12, 2024) | ||
| 5-175443050-T-A | not specified | Uncertain significance (Oct 06, 2022) | ||
| 5-175443057-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
| 5-175443147-C-T | not specified | Likely benign (Mar 09, 2018) | ||
| 5-175443147-C-C | not specified | Benign (Feb 27, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DRD1 | protein_coding | protein_coding | ENST00000393752 | 1 | 4170 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.956 | 0.0444 | 125746 | 0 | 2 | 125748 | 0.00000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.26 | 150 | 250 | 0.599 | 0.0000141 | 2923 |
| Missense in Polyphen | 44 | 125.38 | 0.35094 | 1507 | ||
| Synonymous | -0.0915 | 108 | 107 | 1.01 | 0.00000668 | 942 |
| Loss of Function | 2.89 | 0 | 9.76 | 0.00 | 5.16e-7 | 123 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000615 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000176 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase.;
- Pathway
- Dopaminergic synapse - Homo sapiens (human);Gap junction - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Alcoholism - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics;Levomethadyl Acetate Action Action Pathway;Fluoxetine Action Pathway;Citalopram Action Pathway;Escitalopram Action Pathway;Imipramine Action Pathway;Desipramine Action Pathway;Levallorphan Action Pathway;Dimethylthiambutene Action Pathway;Ethylmorphine Action Pathway;Pentazocine Action Pathway;Naltrexone Action Pathway;Buprenorphine Action Pathway;Alvimopan Action Pathway;Naloxone Action Pathway;Dihydromorphine Action Pathway;Nicotine Action Pathway;Nalbuphine Action Pathway;Ketobemidone Action Pathway;Lidocaine (Local Anaesthetic) Action Pathway;Mepivacaine Action Pathway;Chloroprocaine Action Pathway;Cocaine Action Pathway;Dibucaine Action Pathway;Levobupivacaine Action Pathway;Benzocaine Action Pathway;Bupivacaine Action Pathway;Levorphanol Action Pathway;Propoxyphene Action Pathway;Tramadol Action Action Pathway;Diphenoxylate Action Pathway;Anileridine Action Pathway;Methadone Action Pathway;Oxycodone Action Pathway;Oxybuprocaine Action Pathway;Prilocaine Action Pathway;Procaine Action Pathway;Proparacaine Action Pathway;Ropivacaine Action Pathway;Codeine Action Pathway;Morphine Action Pathway;Heroin Action Pathway;Alfentanil Action Pathway;Oxymorphone Action Pathway;Hydrocodone Action Pathway;Hydromorphone Action Pathway;Sufentanil Action Pathway;Remifentanil Action Pathway;Fentanyl Action Pathway;Carfentanil Action Pathway;Dopamine Activation of Neurological Reward System;3-Methylthiofentanyl Action Pathway;Methadyl Acetate Action Pathway;Dezocine Action Pathway;Common Pathways Underlying Drug Addiction;Phosphodiesterases in neuronal function;GPCRs, Class A Rhodopsin-like;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;regulation of ck1/cdk5 by type 1 glutamate receptors;GPCR Dopamine D1like receptor;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Ghrelin;G alpha (s) signalling events;Dopamine receptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.301
Intolerance Scores
- loftool
- 0.190
- rvis_EVS
- -0.4
- rvis_percentile_EVS
- 26.53
Haploinsufficiency Scores
- pHI
- 0.228
- hipred
- Y
- hipred_score
- 0.809
- ghis
- 0.512
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.886
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Drd1
- Phenotype
- respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- temperature homeostasis;conditioned taste aversion;behavioral fear response;regulation of protein phosphorylation;synaptic transmission, dopaminergic;response to amphetamine;protein import into nucleus;G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;adenylate cyclase-activating dopamine receptor signaling pathway;synapse assembly;memory;mating behavior;grooming behavior;adult walking behavior;visual learning;positive regulation of gene expression;astrocyte development;dopamine transport;transmission of nerve impulse;neuronal action potential;dentate gyrus development;striatum development;cerebral cortex GABAergic interneuron migration;positive regulation of cell migration;peristalsis;operant conditioning;regulation of dopamine metabolic process;vasodilation;dopamine metabolic process;response to drug;maternal behavior;positive regulation of potassium ion transport;histone H3-S10 phosphorylation;glucose import;habituation;sensitization;behavioral response to cocaine;positive regulation of release of sequestered calcium ion into cytosol;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;regulation of dopamine uptake involved in synaptic transmission;positive regulation of synaptic transmission, glutamatergic;prepulse inhibition;phospholipase C-activating dopamine receptor signaling pathway;long-term synaptic potentiation;long-term synaptic depression;cellular response to catecholamine stimulus;cellular response to dopamine;regulation of synaptic vesicle exocytosis
- Cellular component
- nucleus;endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;dendritic spine;ciliary membrane;non-motile cilium;glutamatergic synapse;GABA-ergic synapse;integral component of postsynaptic membrane;integral component of presynaptic membrane
- Molecular function
- dopamine neurotransmitter receptor activity, coupled via Gs;G-protein alpha-subunit binding;dopamine neurotransmitter receptor activity;protein binding;dopamine binding